COSMIC:
COSM6350932 (not active)
Revel Score:
ENST00000257192 (MANE Select)
0.071
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48209449 (NFE)
Genomes Max Group AF
0.48218666 (NFE)
Exomes Max Group AF
0.48185215 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31318331A>G , CM000680.2:g.31318331A>G | GRCh38 |
| NC_000018.9:g.28898294A>G , CM000680.1:g.28898294A>G | GRCh37 |
| NC_000018.8:g.27152292A>G | NCBI36 |
| NG_011803.2:g.5243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.31A>G MANE Select | ENSP00000257192.4:p.Met11Val | |
| ENST00000257192.4:c.31A>G | ENSP00000257192.4:p.Met11Val | |
| NM_001942.3:c.31A>G | NP_001933.2:p.Met11Val | |
| NM_001942.4:c.31A>G MANE Select | NP_001933.2:p.Met11Val |